List of variants reported as pathogenic for vitamin B12 deficiency by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 73

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)	rs749272546	0.00062
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	rs143944436	0.00019
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter)	rs145661597	0.00016
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00014
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	rs121918242	0.00011
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)	rs370778353	0.00009
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)	rs202153130	0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)	rs147277149	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_030943.4(AMN):c.208-2A>G	rs386834170	0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	rs376128990	0.00004
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)	rs747527726	0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)	rs201266016	0.00003
NM_052845.4(MMAB):c.291-1G>A	rs199971687	0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	rs796051992	0.00003
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)	rs144484373	0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)	rs375908206	0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)	rs556977618	0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	rs757325789	0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)	rs398124295	0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	rs587776889	0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	rs999844958	0.00002
NM_001081.4(CUBN):c.1865del (p.Thr622fs)	rs386833771	0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)	rs759203841	0.00001
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)	rs1421007019	0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	rs754990692	0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)	rs1353165398	0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	rs796051995	0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)	rs759188647	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)	rs779893448	0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	rs1463495909	0.00001
NM_052845.4(MMAB):c.197-1G>T	rs763935916	0.00001
NM_172250.3(MMAA):c.651dup (p.Gly218fs)	rs1314623572	0.00001
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)	rs757548934	0.00001
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs)	rs386833775
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)	rs386833777
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)	rs386833778
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)	rs770921101
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)	rs2131697094
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)	rs757649673
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)	rs1161400848
NM_001081.4(CUBN):c.8707C>T (p.Gln2903Ter)
NM_002454.3(MTRR):c.1677-1G>A
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	rs1553162821
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	rs796052000
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015506.3(MMACHC):c.352del (p.Gln118fs)	rs749264632
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	rs796051998
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)	rs2149323799
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)	rs1305170860
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)	rs747527726
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	rs765913293
NM_015506.3(MMACHC):c.626dup (p.Thr210fs)	rs1570833527
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	rs398124296
NM_015506.3(MMACHC):c.81+1G>A	rs745366624
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)	rs779151199
NM_018368.4(LMBRD1):c.916-1G>T
NM_030943.4(AMN):c.14del (p.Gly5fs)	rs386834168
NM_052845.4(MMAB):c.135-1G>A	rs1566137903
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	rs557884699
NM_172250.3(MMAA):c.450dup (p.Pro151fs)	rs754973022
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	rs796051993

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.